Canonical Allele Identifier: CA2023101

Gene: COL5A2

Linked Data

• dbSNP Id: rs776411364
• ExAC: 2:189963427 C / G
• gnomAD v2: 2-189963427-C-G
• gnomAD v4: 2-189098701-C-G
• MyVariant Identifiers: chr2:g.189963427C>G (hg19) ; chr2:g.189098701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098701C>G , CM000664.2:g.189098701C>G	GRCh38
NC_000002.11:g.189963427C>G , CM000664.1:g.189963427C>G	GRCh37
NC_000002.10:g.189671672C>G	NCBI36
NG_011799.1:g.86179G>C
NG_011799.2:g.86179G>C
NG_011799.3:g.131601G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.402+26G>C MANE Select	ENSP00000364000.3:n.402+26G>C
ENST00000649966.1:c.264+26G>C	ENSP00000496785.1:n.264+26G>C
ENST00000374866.7:c.402+26G>C	ENSP00000364000.3:n.402+26G>C
ENST00000618828.1:c.-229+26G>C	ENSP00000482184.1:n.-229+26G>C
NM_000393.3:c.402+26G>C	NP_000384.2:n.402+26G>C
XM_011510573.1:c.264+26G>C	XP_011508875.1:n.264+26G>C
NM_000393.4:c.402+26G>C	NP_000384.2:n.402+26G>C
XM_011510573.3:c.264+26G>C	XP_011508875.1:n.264+26G>C
NM_000393.5:c.402+26G>C MANE Select	NP_000384.2:n.402+26G>C